title: Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac voltage-dependent L-type calcium channel.
abstract: The L-type cardiac calcium channel (LTCC) plays a prominent role in the electric and mechanical function of the heart. Mutations in the LTCC have been associated with a number of inherited cardiac arrhythmia syndromes, including Timothy, Brugada, and early repolarization syndromes. Elucidation of the genetic defects associated with these syndromes has led to a better understanding of molecular and cellular mechanisms and the development of novel therapeutic approaches to dealing with the arrhythmic manifestations. This review provides an overview of the molecular structure and function of the LTCC, the genetic defects in these channels known to contribute to inherited disorders, and the underlying molecular and cellular mechanisms contributing to the development of life-threatening arrhythmias.
authors.affiliation: Executive Director and Director of Research, Gordon K. Moe Scholar, Masonic Medical Research Laboratory, 2150 Bleecker St, Utica, NY 13501, USA. ca@mmrl.edu
authors.forename: Carlo
authors.initials: C
authors.lastname: Napolitano
authors.forename: Charles
authors.initials: C
authors.lastname: Antzelevitch
mesh_terms: D001145:Arrhythmias, Cardiac / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D020746:Calcium Channels, L-Type / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D009154:Mutation / Q000235:genetics*; D009206:Myocardium / Q000378:metabolism / Q000473:pathology; D010641:Phenotype
chemical_list: D020746:Calcium Channels, L-Type